ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827029154
Gene: DSP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305963.1:p.Ser1718Phe
CA362690886
NM_001319034.2:c.5153C>T